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Giornale Italiano di Dermatologia e Venereologia 2020 Jul 02

DOI: 10.23736/S0392-0488.20.06629-8


language: English

PAPA spectrum disorders

Giovanni GENOVESE 1, 2, Chiara MOLTRASIO 2, Simone GARCOVICH 3, Angelo V. MARZANO 1, 2

1 Department of Medical-Surgical Pathophysiology and Transplantation, University of Milan, Milan, Italy; 2 Unit of Dermatology, Maggiore Polyclinic Hospital, IRCCS Ca’ Granda Foundation, Milan, Italy; 3 Institute of Dermatology, IRCCS A. Gemelli University Polyclinic Foundation, Sacred Heart Catholic University, Rome, Italy


Pyogenic arthritis, pyoderma gangrenosum (PG) and acne (PAPA) syndrome is an autosomal dominant autoinflammatory syndrome due to mutations in proline-serine-threonine phosphatase interacting protein 1 (PSTPIP1) gene and presenting with cutaneous and articular manifestations. Other autoinflammatory syndromes caused by mutations in PSTPIP1 gene or characterized by clinical findings overlapping with those found in PAPA syndrome have been recently included in the group of PAPA spectrum disorders. These disorders are PASH (PG, acne and hidradenitis suppurativa [HS]), PAPASH (PASH associated with pyogenic sterile arthritis), PsAPASH (PASH combined with psoriatic arthritis [PsA], PASS (PG, acne, ankylosing spondylitis, with or without HS), PAC (PG, acne and ulcerative colitis [UC]) and PAMI syndrome (PSTPIP1-associated myeloid-related-proteinemia inflammatory syndrome). Except for PAPA and PAMI, no specific pathogenetic mutations have been identified in these syndromes. Dermatologists should be aware that PG, acne and HS may represent cutaneous signs hiding the presence of these rare entities. Systemic corticosteroids, a number of immunosuppressants and biologics, such as interleukin (IL)-1 antagonists and tumour necrosis factor (TNF) α inhibitors, are nowadays therapy for these diseases. A pathogenesis-driven treatment is the near future in the management of these conditions.

KEY WORDS: Hereditary autoinflammatory diseases; Pyogenic arthritis, pyoderma gangrenosum, and acne; Hidradenitis suppurativa

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